UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
| 7 | g.150947350_150947368delinsCATCCAGCCTGCTCTCCAC | CA1752428447 | KCNH2 | n.3945_3963delinsGTGGAGAGCAGGCTGGATG c.3112_3130delinsGTGGAGAGCAGGCTGGATG (p.Val1038=) c.2092_2110delinsGTGGAGAGCAGGCTGGATG (p.Val698=) c.2812_2830delinsGTGGAGAGCAGGCTGGATG (p.Val938=) c.2962_2980delinsGTGGAGAGCAGGCTGGATG (p.Val988=) c.2935_2953delinsGTGGAGAGCAGGCTGGATG (p.Val979=) | |
| 7 | g.150947351_150947368delinsTG | CA007983 | KCNH2 | n.3945_3962delinsCA c.3112_3129delinsCA (p.Val1038GlnfsTer14) c.2092_2109delinsCA (p.Val698GlnfsTer14) c.2812_2829delinsCA (p.Val938GlnfsTer14) c.2962_2979delinsCA (p.Val988GlnfsTer14) c.2935_2952delinsCA (p.Val979GlnfsTer14) | ClinVar dbSNP |
| 7 | g.150947352_150947373delinsTCCAGCCTGCTCTCCACGTCGC | CA1752428458 | KCNH2 | n.3940_3961delinsGCGACGTGGAGAGCAGGCTGGA c.3107_3128delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly1036=) c.2087_2108delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly696=) c.2807_2828delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly936=) c.2957_2978delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly986=) c.2930_2951delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly977=) | |
| 7 | g.150947355_150947375del | CA16612102 | KCNH2 | n.3940_3960del c.3107_3127del (p.Gly1036_Leu1042del) c.2087_2107del (p.Gly696_Leu702del) c.2807_2827del (p.Gly936_Leu942del) c.2957_2977del (p.Gly986_Leu992del) c.2930_2950del (p.Gly977_Leu983del) | ClinVar dbSNP |
| 7 | g.150947355_150947377del | CA2695208777 | KCNH2 | n.3936_3958del c.3103_3125del (p.Arg1035GlyfsTer?) c.2083_2105del (p.Arg695GlyfsTer?) c.2803_2825del (p.Arg935GlyfsTer?) c.2953_2975del (p.Arg985GlyfsTer?) c.2926_2948del (p.Arg976GlyfsTer?) | |
| 7 | g.150947357_150947402del | CA2695208778 | KCNH2 | n.3912_3957del c.3079_3124del (p.Leu1027TrpfsTer15) c.2059_2104del (p.Leu687TrpfsTer15) c.2779_2824del (p.Leu927TrpfsTer15) c.2929_2974del (p.Leu977TrpfsTer15) c.2902_2947del (p.Leu968TrpfsTer15) | |
| 7 | g.150947358_150947377delinsTGGA | CA2695208779 | KCNH2 | n.3936_3955delinsTCCA c.3103_3122delinsTCCA (p.Arg1035SerfsTer17) c.2083_2102delinsTCCA (p.Arg695SerfsTer17) c.2803_2822delinsTCCA (p.Arg935SerfsTer17) c.2953_2972delinsTCCA (p.Arg985SerfsTer17) c.2926_2945delinsTCCA (p.Arg976SerfsTer17) | |
| 7 | g.150947360_150947377delinsCCGCCGACCC | CA2580614279 | KCNH2 | n.3936_3953delinsGGGTCGGCGG c.3103_3120delinsGGGTCGGCGG (p.Arg1035GlyfsTer?) c.2083_2100delinsGGGTCGGCGG (p.Arg695GlyfsTer?) c.2803_2820delinsGGGTCGGCGG (p.Arg935GlyfsTer?) c.2953_2970delinsGGGTCGGCGG (p.Arg985GlyfsTer?) c.2926_2943delinsGGGTCGGCGG (p.Arg976GlyfsTer?) | ClinVar |
| 7 | g.150947367_150947381delinsACGTCGCCCCGGGGC | CA1752428508 | KCNH2 | n.3932_3946delinsGCCCCGGGGCGACGT c.3099_3113delinsGCCCCGGGGCGACGT (p.Arg1033=) c.2079_2093delinsGCCCCGGGGCGACGT (p.Arg693=) c.2799_2813delinsGCCCCGGGGCGACGT (p.Arg933=) c.2949_2963delinsGCCCCGGGGCGACGT (p.Arg983=) c.2922_2936delinsGCCCCGGGGCGACGT (p.Arg974=) | |
| 7 | g.150947369_150947388del | CA2695208780 | KCNH2 | n.3927_3946del c.3094_3113del (p.Arg1032GlyfsTer?) c.2074_2093del (p.Arg692GlyfsTer?) c.2794_2813del (p.Arg932GlyfsTer?) c.2944_2963del (p.Arg982GlyfsTer?) c.2917_2936del (p.Arg973GlyfsTer?) | |
| 7 | g.150947368C>A | CA037127 | KCNH2 | n.3945G>T c.3112G>T (p.Val1038Leu) c.2092G>T (p.Val698Leu) c.2812G>T (p.Val938Leu) c.2962G>T (p.Val988Leu) c.2935G>T (p.Val979Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947368C= | CA1752428537 | KCNH2 | n.3945G= c.3112G= (p.Val1038=) c.2092G= (p.Val698=) c.2812G= (p.Val938=) c.2962G= (p.Val988=) c.2935G= (p.Val979=) | |
| 7 | g.150947368C>G | CA369852608 | KCNH2 | n.3945G>C c.3112G>C (p.Val1038Leu) c.2092G>C (p.Val698Leu) c.2812G>C (p.Val938Leu) c.2962G>C (p.Val988Leu) c.2935G>C (p.Val979Leu) | |
| 7 | g.150947368C>T | CA007991 | KCNH2 | n.3945G>A c.3112G>A (p.Val1038Met) c.2092G>A (p.Val698Met) c.2812G>A (p.Val938Met) c.2962G>A (p.Val988Met) c.2935G>A (p.Val979Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947368_150947369insCGTCGCCCCGGGGC | CA918162868 | KCNH2 | n.3945_3946insCCCCGGGGCGACGG c.3112_3113insCCCCGGGGCGACGG (p.Val1038AlafsTer24) c.2092_2093insCCCCGGGGCGACGG (p.Val698AlafsTer24) c.2812_2813insCCCCGGGGCGACGG (p.Val938AlafsTer24) c.2962_2963insCCCCGGGGCGACGG (p.Val988AlafsTer24) c.2935_2936insCCCCGGGGCGACGG (p.Val979AlafsTer24) | dbSNP |
| 7 | g.150947370_150947372dup | CA2685601815 | KCNH2 | n.3943_3945dup c.3110_3112dup (p.Asp1037_Val1038insAsp) c.2090_2092dup (p.Asp697_Val698insAsp) c.2810_2812dup (p.Asp937_Val938insAsp) c.2960_2962dup (p.Asp987_Val988insAsp) c.2933_2935dup (p.Asp978_Val979insAsp) | gnomAD v4 |
| 7 | g.150947369_150947373dup | CA1139660329 | KCNH2 | n.3941_3945dup c.3108_3112dup (p.Val1038AlafsTer21) c.2088_2092dup (p.Val698AlafsTer21) c.2808_2812dup (p.Val938AlafsTer21) c.2958_2962dup (p.Val988AlafsTer21) c.2931_2935dup (p.Val979AlafsTer21) | ClinVar dbSNP |
| 7 | g.150947369_150947374dup | CA579075354 | KCNH2 | n.3940_3945dup c.3107_3112dup (p.Asp1037_Val1038insGlyAsp) c.2087_2092dup (p.Asp697_Val698insGlyAsp) c.2807_2812dup (p.Asp937_Val938insGlyAsp) c.2957_2962dup (p.Asp987_Val988insGlyAsp) c.2930_2935dup (p.Asp978_Val979insGlyAsp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947368_150947375delinsGT | CA2580077701 | KCNH2 | n.3938_3945delinsAC c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu) c.2085_2092delinsAC (p.Gly696_Val698delinsLeu) c.2805_2812delinsAC (p.Gly936_Val938delinsLeu) c.2955_2962delinsAC (p.Gly986_Val988delinsLeu) c.2928_2935delinsAC (p.Gly977_Val979delinsLeu) | ClinVar |
| 7 | g.150947369_150947375dup | CA658797027 | KCNH2 | n.3939_3945dup c.3106_3112dup (p.Val1038GlyfsTer?) c.2086_2092dup (p.Val698GlyfsTer?) c.2806_2812dup (p.Val938GlyfsTer?) c.2956_2962dup (p.Val988GlyfsTer?) c.2929_2935dup (p.Val979GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947370_150947377dup | CA305338 | KCNH2 | n.3938_3945dup c.3105_3112dup (p.Val1038GlyfsTer22) c.2085_2092dup (p.Val698GlyfsTer22) c.2805_2812dup (p.Val938GlyfsTer22) c.2955_2962dup (p.Val988GlyfsTer22) c.2928_2935dup (p.Val979GlyfsTer22) | ClinVar dbSNP |
| 7 | g.150947370_150947383dup | CA2685601816 | KCNH2 | n.3932_3945dup c.3099_3112dup (p.Val1038GlyfsTer24) c.2079_2092dup (p.Val698GlyfsTer24) c.2799_2812dup (p.Val938GlyfsTer24) c.2949_2962dup (p.Val988GlyfsTer24) c.2922_2935dup (p.Val979GlyfsTer24) | gnomAD v4 |
| 7 | g.150947370_150947383del | CA16618397 | KCNH2 | n.3932_3945del c.3099_3112del (p.Pro1034GlyfsTer?) c.2079_2092del (p.Pro694GlyfsTer?) c.2799_2812del (p.Pro934GlyfsTer?) c.2949_2962del (p.Pro984GlyfsTer?) c.2922_2935del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947370_150947386del | CA658761307 | KCNH2 | n.3929_3945del c.3096_3112del (p.Arg1033GlyfsTer?) c.2076_2092del (p.Arg693GlyfsTer?) c.2796_2812del (p.Arg933GlyfsTer?) c.2946_2962del (p.Arg983GlyfsTer?) c.2919_2935del (p.Arg974GlyfsTer?) | |
| 7 | g.150947368_150947403del | CA2685601817 | KCNH2 | n.3910_3945del c.3077_3112del (p.Pro1026_Val1038delinsLeu) c.2057_2092del (p.Pro686_Val698delinsLeu) c.2777_2812del (p.Pro926_Val938delinsLeu) c.2927_2962del (p.Pro976_Val988delinsLeu) c.2900_2935del (p.Pro967_Val979delinsLeu) | dbSNP gnomAD v4 |
| 7 | g.150947369G>A | CA007976 | KCNH2 | n.3944C>T c.3111C>T (p.Asp1037=) c.2091C>T (p.Asp697=) c.2811C>T (p.Asp937=) c.2961C>T (p.Asp987=) c.2934C>T (p.Asp978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947369G>C | CA369852611 | KCNH2 | n.3944C>G c.3111C>G (p.Asp1037Glu) c.2091C>G (p.Asp697Glu) c.2811C>G (p.Asp937Glu) c.2961C>G (p.Asp987Glu) c.2934C>G (p.Asp978Glu) | |
| 7 | g.150947369G= | CA1752428552 | KCNH2 | n.3944C= c.3111C= (p.Asp1037=) c.2091C= (p.Asp697=) c.2811C= (p.Asp937=) c.2961C= (p.Asp987=) c.2934C= (p.Asp978=) | |
| 7 | g.150947369G>T | CA369852613 | KCNH2 | n.3944C>A c.3111C>A (p.Asp1037Glu) c.2091C>A (p.Asp697Glu) c.2811C>A (p.Asp937Glu) c.2961C>A (p.Asp987Glu) c.2934C>A (p.Asp978Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947370_150947379del | CA2695208782 | KCNH2 | n.3935_3944del c.3102_3111del (p.Arg1035TrpfsTer19) c.2082_2091del (p.Arg695TrpfsTer19) c.2802_2811del (p.Arg935TrpfsTer19) c.2952_2961del (p.Arg985TrpfsTer19) c.2925_2934del (p.Arg976TrpfsTer19) | |
| 7 | g.150947370T>A | CA369852616 | KCNH2 | n.3943A>T c.3110A>T (p.Asp1037Val) c.2090A>T (p.Asp697Val) c.2810A>T (p.Asp937Val) c.2960A>T (p.Asp987Val) c.2933A>T (p.Asp978Val) | |
| 7 | g.150947370T>C | CA369852618 | KCNH2 | n.3943A>G c.3110A>G (p.Asp1037Gly) c.2090A>G (p.Asp697Gly) c.2810A>G (p.Asp937Gly) c.2960A>G (p.Asp987Gly) c.2933A>G (p.Asp978Gly) | |
| 7 | g.150947370T>G | CA369852615 | KCNH2 | n.3943A>C c.3110A>C (p.Asp1037Ala) c.2090A>C (p.Asp697Ala) c.2810A>C (p.Asp937Ala) c.2960A>C (p.Asp987Ala) c.2933A>C (p.Asp978Ala) | |
| 7 | g.150947370_150947381delinsTCGCCCCGGGGC | CA1752428556 | KCNH2 | n.3932_3943delinsGCCCCGGGGCGA c.3099_3110delinsGCCCCGGGGCGA (p.Arg1033=) c.2079_2090delinsGCCCCGGGGCGA (p.Arg693=) c.2799_2810delinsGCCCCGGGGCGA (p.Arg933=) c.2949_2960delinsGCCCCGGGGCGA (p.Arg983=) c.2922_2933delinsGCCCCGGGGCGA (p.Arg974=) | |
| 7 | g.150947371C>A | CA369852620 | KCNH2 | n.3942G>T c.3109G>T (p.Asp1037Tyr) c.2089G>T (p.Asp697Tyr) c.2809G>T (p.Asp937Tyr) c.2959G>T (p.Asp987Tyr) c.2932G>T (p.Asp978Tyr) | dbSNP gnomAD v4 |
| 7 | g.150947371C= | CA1752428565 | KCNH2 | n.3942G= c.3109G= (p.Asp1037=) c.2089G= (p.Asp697=) c.2809G= (p.Asp937=) c.2959G= (p.Asp987=) c.2932G= (p.Asp978=) | |
| 7 | g.150947371C>G | CA369852621 | KCNH2 | n.3942G>C c.3109G>C (p.Asp1037His) c.2089G>C (p.Asp697His) c.2809G>C (p.Asp937His) c.2959G>C (p.Asp987His) c.2932G>C (p.Asp978His) | |
| 7 | g.150947371C>T | CA007968 | KCNH2 | n.3942G>A c.3109G>A (p.Asp1037Asn) c.2089G>A (p.Asp697Asn) c.2809G>A (p.Asp937Asn) c.2959G>A (p.Asp987Asn) c.2932G>A (p.Asp978Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947372_150947375dup | CA658761308 | KCNH2 | n.3939_3942dup c.3106_3109dup (p.Asp1037GlyfsTer?) c.2086_2089dup (p.Asp697GlyfsTer?) c.2806_2809dup (p.Asp937GlyfsTer?) c.2956_2959dup (p.Asp987GlyfsTer?) c.2929_2932dup (p.Asp978GlyfsTer?) | |
| 7 | g.150947373_150947377dup | CA2573141844 | KCNH2 | n.3938_3942dup c.3105_3109dup (p.Asp1037GlyfsTer22) c.2085_2089dup (p.Asp697GlyfsTer22) c.2805_2809dup (p.Asp937GlyfsTer22) c.2955_2959dup (p.Asp987GlyfsTer22) c.2928_2932dup (p.Asp978GlyfsTer22) | ClinVar dbSNP |
| 7 | g.150947375_150947385dup | CA16612298 | KCNH2 | n.3932_3942dup c.3099_3109dup (p.Asp1037GlyfsTer24) c.2079_2089dup (p.Asp697GlyfsTer24) c.2799_2809dup (p.Asp937GlyfsTer24) c.2949_2959dup (p.Asp987GlyfsTer24) c.2922_2932dup (p.Asp978GlyfsTer24) | ClinVar dbSNP |
| 7 | g.150947375_150947385del | CA007922 | KCNH2 | n.3932_3942del c.3099_3109del (p.Pro1034ArgfsTer?) c.2079_2089del (p.Pro694ArgfsTer?) c.2799_2809del (p.Pro934ArgfsTer?) c.2949_2959del (p.Pro984ArgfsTer?) c.2922_2932del (p.Pro975ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947373_150947386del | CA2579062673 | KCNH2 | n.3929_3942del c.3096_3109del (p.Pro1034GlyfsTer?) c.2076_2089del (p.Pro694GlyfsTer?) c.2796_2809del (p.Pro934GlyfsTer?) c.2946_2959del (p.Pro984GlyfsTer?) c.2919_2932del (p.Pro975GlyfsTer?) | |
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150947372G>A | CA037083 | KCNH2 | n.3941C>T c.3108C>T (p.Gly1036=) c.2088C>T (p.Gly696=) c.2808C>T (p.Gly936=) c.2958C>T (p.Gly986=) c.2931C>T (p.Gly977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947372G>C | CA458644829 | KCNH2 | n.3941C>G c.3108C>G (p.Gly1036=) c.2088C>G (p.Gly696=) c.2808C>G (p.Gly936=) c.2958C>G (p.Gly986=) c.2931C>G (p.Gly977=) | |
| 7 | g.150947372G= | CA1752428580 | KCNH2 | n.3941C= c.3108C= (p.Gly1036=) c.2088C= (p.Gly696=) c.2808C= (p.Gly936=) c.2958C= (p.Gly986=) c.2931C= (p.Gly977=) | |
| 7 | g.150947372G>T | CA458644830 | KCNH2 | n.3941C>A c.3108C>A (p.Gly1036=) c.2088C>A (p.Gly696=) c.2808C>A (p.Gly936=) c.2958C>A (p.Gly986=) c.2931C>A (p.Gly977=) | gnomAD v4 |
| 7 | g.150947372dup | CA915945567 | KCNH2 | n.3941dup c.3108dup (p.Asp1037ArgfsTer?) c.2088dup (p.Asp697ArgfsTer?) c.2808dup (p.Asp937ArgfsTer?) c.2958dup (p.Asp987ArgfsTer?) c.2931dup (p.Asp978ArgfsTer?) | ClinVar dbSNP |